Sugi Variant

Sugi Variant/LMOD2

LMOD2 — 125 ClinVar variants

All ClinVar germline LMOD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

4 Pathogenic · 6 Likely pathogenic · 6 Benign · 22 Likely benign · 87 Uncertain significance

Full LMOD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 60

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 23

The independent predictors disagree with each other — read with care.

All LMOD2 variants

Pathogenic 4

  • p.Arg513Ter Single submitter cardiomyopathy, dilated, 2G
  • c.273+1G>A No assertion criteria cardiomyopathy, dilated, 2G
  • p.Leu415fs No assertion criteria cardiomyopathy, dilated, 2G
  • p.Trp398Ter No assertion criteria cardiomyopathy, dilated, 2G

Likely pathogenic 6

  • p.Ala235fs Single submitter cardiomyopathy, dilated, 2G
  • p.Arg7fs Single submitter cardiomyopathy, dilated, 2G
  • p.Asn325fs Single submitter LMOD2-related disorders
  • p.Gln126Ter Single submitter LMOD2-related disorders
  • p.Glu32Ter Single submitter LMOD2-related disorders
  • p.Val485fs Single submitter cardiomyopathy, dilated, 2G

Benign 6

Likely benign 22

Uncertain significance 87